TMEM173

transmembrane protein 173
OMIM: 612374
PanelMode of inheritanceDetails
3 panels
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
STING-associated vasculopathy, infantile-onset 615934, Type 1 interferonopathies, Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL, Autoinflammatory Disorders
R-numbers: R332
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SAVI, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, STING-associated vasculopathy
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STING-associated vasculopathy